MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Mean platelet volume |
0.0127 |
0.00208 |
9.07e-10 |
Wald ratio |
1 |
cis |
NA |
| Platelet count |
-3.3 |
0.791 |
3.07e-05 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.212 |
0.0514 |
3.83e-05 |
Wald ratio |
1 |
cis |
NA |
| Nucleus accumbens volume |
7.3 |
2.12 |
5.84e-04 |
Wald ratio |
1 |
cis |
NA |
| Age at menopause |
-0.13 |
0.0389 |
8.58e-04 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
-0.0567 |
0.0188 |
0.00258 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0113 |
0.00382 |
0.0032 |
Wald ratio |
1 |
cis |
NA |
| Myocardial infarction |
-0.0594 |
0.0208 |
0.00419 |
Wald ratio |
1 |
cis |
NA |
| Caudate volume |
25.7 |
9.42 |
0.00644 |
Wald ratio |
1 |
cis |
NA |
| Ovarian cancer |
-0.0664 |
0.0257 |
0.00968 |
Wald ratio |
1 |
cis |
NA |
| Haemoglobin concentration |
-0.0287 |
0.0112 |
0.0102 |
Wald ratio |
1 |
cis |
NA |
| Microalbuminuria |
-0.103 |
0.0402 |
0.0108 |
Wald ratio |
1 |
cis |
NA |
| …and 107 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3296_92_2 |
CNTN2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
96 association rows across 55 traits (86 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Circulating CNTN2 levels |
2e-3298 |
rs1572995 |
6 |
GCST90860318 |
no MR -> candidate analysis |
| Contactin-2 levels |
9e-615 |
rs2071533 |
11 |
GCST90247123 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
6e-212 |
rs3820338 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| CNTN2 protein levels |
2e-194 |
rs114791495 |
7 |
GCST90468804 |
no MR -> candidate analysis |
| Serum levels of protein CNTN2 |
6e-136 |
rs2071533 |
2 |
GCST90088297 |
no MR -> candidate analysis |
| Contactin-2 levels (CNTN2.3296.92.2) |
7e-108 |
rs2071533 |
2 |
GCST90240785 |
no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) |
3e-99 |
rs143419712 |
1 |
GCST90468087 |
no MR -> candidate analysis |
| Blood protein levels |
1e-67 |
rs1572995 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Red blood cell count |
8e-39 |
rs6662930 |
4 |
GCST90002367 |
no MR -> candidate analysis |
| Aspartate aminotransferase levels |
8e-30 |
rs11240351 |
3 |
GCST90662897 |
no MR -> candidate analysis |
| Contactin-2 level in Chronic kidney disease with hypertensio |
1e-24 |
rs2275697 |
1 |
GCST90237298 |
no MR -> candidate analysis |
| Aspartate aminotransferase levels (UKB data field 30650) |
2e-23 |
rs11240351 |
1 |
GCST90468063 |
no MR -> candidate analysis |
| …and 43 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 327 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| benign adult familial myoclonic epilepsy |
0.869 |
— |
established (curated) |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.76 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetes mellitus |
0.717 |
— |
common-variant locus |
no MR -> candidate analysis |
| complex neurodevelopmental disorder |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| diabetic eye disease |
0.677 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.64 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery disorder |
0.633 |
— |
common-variant locus |
no MR -> candidate analysis |
| epilepsy, familial adult myoclonic |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| coronary atherosclerosis |
0.53 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetic neuropathy |
0.505 |
— |
common-variant locus |
no MR -> candidate analysis |
| ventral hernia |
0.322 |
— |
common-variant locus |
MR: beta=-0.0792, p=0.298 (cis) |
| cardiovascular disorder |
0.264 |
— |
common-variant locus |
no MR -> candidate analysis |
| neoplasm |
0.116 |
— |
common-variant locus |
MR: beta=0.0674, p=0.0672 (cis) |
| cerebellar atrophy, visual impairment, and psychomotor retardation; |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| circadian rhythm |
0.134 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 13 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.00086, LOEUF=0.567 — LoF-tolerant |
| GWAS Catalog |
115 unique SNPs / 288 rows |
| ClinVar |
910 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 327 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘CNTN2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 910 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 55 traits by best p-value, aggregated from 96 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q02246 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000184144/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CNTN2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CNTN2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CNTN2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CNTN2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:55:38 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none